Mucous membrane pemphigoid

General Information (adopted from Orphanet):

Synonyms, Signs: OCP
Mucosal pemphigoid
Cicatricial pemphigoid
Mucosynechial pemphigoid
Number of Symptoms 12
OrphanetNr: 46486
OMIM Id: 164185
ICD-10: L12.1
UMLs:
MeSH:
MedDRA: 10057052
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Not applicable
[Orphanet]
Age of onset: Adult
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Autoimmune bullous skin disease
 -Rare skin disease

Symptom Information: Sort by abundance 

1
 (HPO:0000080) Abnormality of reproductive system physiology Frequent [Orphanet] 6 / 7739
2
 (HPO:0011830) Abnormality of oral mucosa Very frequent [Orphanet] 47 / 7739
3
 (HPO:0000230) Gingivitis Frequent [Orphanet] 31 / 7739
4
 (HPO:0000481) Abnormality of the cornea Occasional [Orphanet] 124 / 7739
5
 (HPO:0100533) Inflammatory abnormality of the eye Very frequent [Orphanet] 70 / 7739
6
 (HPO:0000572) Visual loss Occasional [Orphanet] 272 / 7739
7
 (HPO:0000478) Abnormality of the eye 126 / 7739
8
 (HPO:0200037) Skin vesicle Very frequent [Orphanet] 102 / 7739
9
 (HPO:0000987) Atypical scarring of skin Frequent [Orphanet] 58 / 7739
10
 (HPO:0002960) Autoimmunity Very frequent [Orphanet] 78 / 7739
11
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
12
 (OMIM) Ocular dominance 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: